I was born with Dandy-Walker Syndrome, epilepsy and an atrioventricular septal defect, Tetralogy of Fallot. 

While Tetralogy of Fallot is a known congenital heart condition that is treatable, not much is known about Dandy-Walker Syndrome, a condition recognised by NORD (National Organisation for Rare Disorders).

As a dual citizen of the US and UK, I was diagnosed by a pediatric neurology team in Ohio and received treatment there up until the age of three, when my family moved to the UK. We struggled to find appropriate medical care through the NHS.

To this day, there are very few neurologists who specialise in treating Dandy-Walker Syndrome.

Now, at age 29, I have been referred to a specialist who, at my now-retired former neurologist's admission, was difficult to find. I am passionate about raising awareness of my disability and helping families and individuals feel a little less alone upon receiving a diagnosis.

Thanks to the US-based non-profit organisation, Dandy-Walker Alliance, I have a platform to continue spreading awareness and campaign for better treatment and more in-depth knowledge in the UK.

Here are a few main facts about DWS:

1 in 10,000 babies are born with Dandy-Walker Syndrome.

Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid filled spaces around it.

The key features of this syndrome are:

• an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord)
• a partial or complete absence of the cerebellar vermis (the area between the two cerebellar hemispheres), and cyst formation near the internal base of the skull.
• An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.

The syndrome can appear dramatically or develop unnoticed.

Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability, vomiting, and convulsions, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur.

The most common co-existing condition is hydrocephalus, which affects 70 to 80 percent of people with Dandy-Walker. Other co-existing conditions include malformations of the heart, face and limbs.

With your help, we can provide healthcare professionals with greater knowledge and understanding of this rare disability, and give families across the UK comfort and reassurance that their child will be accurately diagnosed and treated, allowing them to have a better quality of life.

For more information, please visit the official Dandy-Walker Alliance website:

https://dandy-walker.org/

Thank you.